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Showing 1–10 of 10 results
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  • Preliminary results from an investigator-initiated clinical trial showed that an AAV-OTOF gene therapy was safe and led to hearing improvements in ten patients with congenital deafness with 6–12 months of follow-up, including in a teenager and a young adult, expanding the age range from previous trials.

    • Jieyu Qi
    • Liyan Zhang
    • Renjie Chai
    Research
    Nature Medicine
    Volume: 31, P: 2917-2926
  • A description is given of the ENCODE effort to provide a complete catalogue of primary and processed RNAs found either in specific subcellular compartments or throughout the cell, revealing that three-quarters of the human genome can be transcribed, and providing a wealth of information on the range and levels of expression, localization, processing fates and modifications of known and previously unannotated RNAs.

    • Sarah Djebali
    • Carrie A. Davis
    • Thomas R. Gingeras
    ResearchOpen Access
    Nature
    Volume: 489, P: 101-108
  • This overview of the ENCODE project outlines the data accumulated so far, revealing that 80% of the human genome now has at least one biochemical function assigned to it; the newly identified functional elements should aid the interpretation of results of genome-wide association studies, as many correspond to sites of association with human disease.

    • Ian Dunham
    • Anshul Kundaje
    • Ewan Birney
    ResearchOpen Access
    Nature
    Volume: 489, P: 57-74
  • The analysis of mammalian transcriptomes could provide new insights into human biology. Here the authors carry out RNA sequencing in a large collection of mouse tissues and compare these data to human transcriptome profiles, identifying a set of constrained genes that carry out basic cellular functions with remarkably constant expression levels across tissues and species.

    • Dmitri D. Pervouchine
    • Sarah Djebali
    • Thomas R. Gingeras
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-11
  • Misrepair of DNA double-strand breaks can lead to chromosomal rearrangements, which can promote carcinogenesis. Here, the authors show in cultured human astrocytes that transcriptional activation impacts on DNA double-strand break formation and repair upon ionizing radiation in a site-specific manner.

    • Raymund L. Yong
    • Chunzhang Yang
    • Russell R. Lonser
    Research
    Nature Communications
    Volume: 5, P: 1-12
  • Uniform processing and detailed annotation of human, worm and fly RNA-sequencing data reveal ancient, conserved features of the transcriptome, shared co-expression modules (many enriched in developmental genes), matched expression patterns across development and similar extent of non-canonical, non-coding transcription; furthermore, the data are used to create a single, universal model to predict gene-expression levels for all three organisms from chromatin features at the promoter.

    • Mark B. Gerstein
    • Joel Rozowsky
    • Robert Waterston
    ResearchOpen Access
    Nature
    Volume: 512, P: 445-448